Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults
- PMID: 15824356
- DOI: 10.1212/01.WNL.0000156800.23776.40
Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults
Abstract
Three unrelated adult patients with mild hyperglycinemia, infantile hypotonia, mental retardation, behavioral hyperirritability, and aggressive outbursts were screened for glycine decarboxylase (GLDC) mutations; two novel missense mutations (A389V and R739H) were found. Both mutations had a 6 to 8% of normal GLDC activities when expressed in COS7 cells.
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